ClinVar Miner

Variants with conflicting interpretations between Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital and Invitae

Minimum review status of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
250 73 0 8 10 0 7 25

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 3 0 1
likely pathogenic 6 0 1 0 0
uncertain significance 1 1 0 6 3
likely benign 0 0 1 0 0

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000109.4(DMD):c.5300_5301delinsGT (p.Lys1767Ser) rs1557303381
NM_000138.4(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131
NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly) rs878853894
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753
NM_006079.5(CITED2):c.479A>T (p.His160Leu) rs111814036
NM_018328.4(MBD5):c.4271C>A (p.Pro1424His) rs775673512
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) rs137854612

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